|
(Ivanhoe Newswire) -- Carriers of a rare genetic condition called Gaucher disease face a five-fold risk of developing Parkinson's disease.
The discovery was made by investigators from the National Human Genome Research Institute (NHGRI) and the National Institute on Aging (NIA), both parts of the National Institutes of Health, in collaboration with scientists from 16 research centers on four continents.
Text Continues Below
"This analysis illustrates how studying a rare but important disorder, like Gaucher disease, can provide powerful clues about more common disorders, such as Parkinson's disease," NHGRI Scientific Director Eric Green, M.D., Ph.D, was quoted as saying. "Understanding the genetic basis of rare conditions can thus provide insights into normal cellular and biological processes, which in turn may lead to improved diagnostic and therapeutic strategies."
Parkinson's disease, a neurological condition that causes tremors and stiffness in movement, affects 1 to 2 percent of people over the age of 60. The chance of developing Parkinson's disease increases with age and involves a combination of environmental risk factors and genetic susceptibility.
Gaucher disease occurs when an individual inherits two defective copies of the GBA gene, which codes for a particular enzyme which, in turn, breaks down a fatty substance called glucocerebroside. When this fatty substance is not properly disposed of, it can harm the spleen, liver, lungs, bone marrow and, in some cases, the brain.
It was previously thought that people who carried just one altered GBA gene were unaffected. However, more recent research suggests that all carriers of GBA alterations may have an increased risk of developing Parkinson's disease.
"The opportunity was right to amass the data into one powerful study," Ellen Sidransky, M.D., senior investigator in NHGRI's Medical Genetics Branch and lead author of the study, was quoted as saying. "Our analyses of the accumulated data provide a convincing association between GBA alterations and Parkinson's disease."
Besides significantly increasing the risk of Parkinson's disease, GBA alterations also appear to increase the likelihood of early disease onset. According to the new study, Parkinson's patients with GBA alterations developed symptoms an average of four years earlier than other Parkinson's patients.
Overall, the researchers found that the association between GBA and Parkinson's disease is not confined to any single ethnicity or to specific GBA mutations. In addition, many GBA mutation carriers as well as patients with Gaucher disease never develop Parkinson's disease, so this appears to be only one of several risk factors.
SOURCE: New England Journal of Medicine, October 21, 2009
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Melissa Medalie at mmedalie@ivanhoe.com
This article was reported by Ivanhoe.com, who offers Medical Alerts by e-mail every day of the week. To subscribe, go to: http://www.ivanhoe.com/newsalert/.
|
.gif)
